Table 1

Phenotypic features of the patients
Patient No (Pedigree No, Figure 1)

Patient 1

( IV.1)

Family 1 Patient 3 (IV.4) Patient 4 (IV.5) Family 2 Patient 6 (IV.11)
Patient 2 (IV.3) Patient 5 (IV.6)
Sex F M F M M F
Gestational age Term Term Term Term Term Term
Excessive fetal movement + + + NA + +
Birth weight (gm) 2985 3200 2620 NA 2980 2970
Occipitofrontal circumference (cm) 30.5 32 31 NA 31 31
Signs of hyperekplexia
• Stiffness + + + + + +
• Non-habituating generalized flexor spasm to glabellar tap + + + + + +
• Exaggerated persistant Startle reaction to stimuli + + + + + +
Major neurologic findings
• Microcephaly + + + + + +
• Hypertonia + + + NA + +
• Arthrogryposis + + + NA + +
Ophthalmic examination Bilateral optic atrophy Bilateral optic atrophy Bilateral optic atrophy NA Bilateral optic atrophy Bilateral optic atrophy
Electroencephalography (EEG) • Background: Widespread low voltage brain waves, with occasional synchronized jerks mostly myogenic in origin. • Background: Consisted of low voltage brain wave tracing all over the record. NA NA • Background: Diffuse slow activity with low voltage for age. EEG: Full of motion artifacts but the background was continuous without epileptic discharges.
• Prominent electrical contamination from the ventilator. • No spikes or sharp waves and no abnormal focal changes.
• Occasional synchronized jerks most likely coming from the muscle. • No electrical sign of seizure activity.
Metabolic screen Negative Negative Negative NA Negative Negative
Chromosome analysis 46XX 46XY 46XX NA 46XY 46XX
CT brain Figure 2A & B: Brain underdevelopment with large extra cerebral CSF spaces Figure 2C: Remarkable brain under-development with very few sulci in frontal and temporal lobes. Sylvian fissures are under-developed and wide open. Figure 2E & F: Remarkable cerebral and cerebellar under-development, simplified gyral pattern and enlargement of extra cerebral CSF spaces. NA Cerebral and cerebellar atrophy NA
MRI brain NA Figure 2 D: Small cerebellar vermis. NA NA NA Figure 2 G & H: Simplified gyral pattern. The frontal and temporal lobes are very few and shallow. Sylvian fissures are wide open.
Age at death 6 weeks 2 weeks 6 weeks 4 days 4 weeks 3 weeks

+ = Present, NA = Not available.

Seidahmed et al.

Seidahmed et al. BMC Neurology 2012 12:125   doi:10.1186/1471-2377-12-125

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